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Details
Link-It Detail - Human Phenotype - Abnormality of skull ossification
Debug Stats
  • ### Total Build Time: 25 ms 28.558 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 208 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 307 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 782 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.086 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 23.599 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of skull ossification HP:0002703
Definition (1)
An abnormality of the process of ossification of the skull. The bones of the skull derive directly from mesenchyme cells by intramembranous ossification.
Parents (1)
img Abnormality of the skull HP:0000929
Children (2)
img Increased skull ossification HP:0004330
img Decreased skull ossification HP:0004331
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the skull HP:0000929
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the skull HP:0000929
Genes (55)

Species:
human : 55
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP IEA, OMIM ID: 300863
HumanPSS780904Potocki-Shaffer syndrome
img HP RolledUp, OMIM ID: 601224
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
img HP RolledUp, OMIM ID: 252930
HumanCOX4I284701cytochrome c oxidase subunit IV isoform 2 (lung)
img HP RolledUp, OMIM ID: 612714
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
img HP RolledUp, OMIM ID: 218400
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img HP RolledUp, OMIM ID: 610915
HumanFAM111A63901family with sequence similarity 111, member A
img HP RolledUp, OMIM ID: 602361
HumanSLC25A1960386solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
img HP RolledUp, OMIM ID: 607196
HumanSOST50964sclerostin
img HP RolledUp, OMIM ID: 239100
img HP RolledUp, OMIM ID: 122860
img HP RolledUp, OMIM ID: 269500
HumanSETBP126040SET binding protein 1
img HP RolledUp, OMIM ID: 269150
HumanGJB610804gap junction protein, beta 6, 30kDa
img HP RolledUp, OMIM ID: 129500
HumanCRTAP10491cartilage associated protein
img HP RolledUp, OMIM ID: 610854
img HP RolledUp, OMIM ID: 610682
HumanSEC23A10484Sec23 homolog A (S. cerevisiae)
img HP RolledUp, OMIM ID: 607812
HumanZMPSTE2410269zinc metallopeptidase STE24
img HP RolledUp, OMIM ID: 275210
HumanFIG49896FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
img HP RolledUp, OMIM ID: 216340
HumanTRIP119321thyroid hormone receptor interactor 11
img HP RolledUp, OMIM ID: 200600
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img HP RolledUp, OMIM ID: 259710
HumanALMS17840Alstrom syndrome 1
img HP RolledUp, OMIM ID: 203800
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img HP RolledUp, OMIM ID: 276820
HumanTBXAS16916thromboxane A synthase 1 (platelet)
img HP RolledUp, OMIM ID: 231095
HumanTBCE6905tubulin folding cofactor E
img HP RolledUp, OMIM ID: 244460
HumanSGSH6448N-sulfoglucosamine sulfohydrolase
img HP RolledUp, OMIM ID: 252900
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002703Abnormality of skull ossification0self